Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer

Mrinmoyee Majumder1, Roger H Johnson2, Viswanathan Palanisamy1

  • 1Department of Biochemistry and Molecular Biology, School of Medicine, Medical University of South Carolina, Charleston, SC, USA.

Insights

Fragile X-related (FXR) proteins are crucial for RNA metabolism and development. Their roles in fragile X syndrome, mental illness, and cancer reveal contrasting functions based on tissue expression, requiring further study.

Area of Science:

  • Molecular Biology
  • Neuroscience
  • Oncology

Background:

  • The fragile X-related (FXR) protein family, including FMRP, FXR1, and FXR2, are homologous RNA-binding proteins vital for RNA metabolism, neuronal plasticity, and muscle development.
  • FXR proteins are implicated in fragile X mental retardation syndrome (FXS), the most common genetic cause of autism spectrum disorder.

Purpose of the Study:

  • To review the FXR protein family's role in FXS, other mental illnesses, and cancer.
  • To highlight recent findings on novel RNA and protein targets and their implications for neurological disorders and cancer biology.
  • To discuss contrasting functions of FXR proteins in FXS and tumorigenesis based on human tissue expression patterns.

Main Methods:

  • Review of existing literature and recent findings on FXR protein family.
  • Analysis of FXR protein expression patterns in human tissues.
  • Identification of novel RNA and protein targets associated with FXR proteins.

Main Results:

  • FXR proteins play a critical role in FXS and are implicated in other mental illnesses and cancer.
  • Recent discoveries have identified novel RNA and protein targets, advancing understanding of neurological disorders and cancer biology.
  • Expression patterns in human tissues suggest contrasting roles for FXR proteins in FXS and tumorigenesis.

Conclusions:

  • The FXR protein family has complex and potentially contrasting roles in FXS and cancer.
  • Further research is needed to address knowledge gaps regarding FXR proteins in FXS and cancer.
  • Future studies aim to translate findings from basic research to clinical applications for patients.

Related Concept Videos

Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
33.1K
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
3.6K
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
107.0K
Canonical Wnt Signaling Pathway02:54

Canonical Wnt Signaling Pathway

The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which...
10.1K
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.0K
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
42.7K